Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Colec12'

219316

Institutional Source

Beutler Lab

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, Scara4, SRCL

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9874813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 696 (D696E)

Ref Sequence

ENSEMBL: ENSMUSP00000043220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040069]

AlphaFold

Q8K4Q8

PDB Structure

Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000040069
AA Change: D696E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: D696E

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
coiled coil region	112	157	N/A	INTRINSIC
low complexity region	205	211	N/A	INTRINSIC
coiled coil region	217	247	N/A	INTRINSIC
low complexity region	268	280	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
Pfam:Collagen	441	499	1.4e-10	PFAM
Pfam:Collagen	482	548	9.6e-10	PFAM
Pfam:Collagen	530	591	3.8e-11	PFAM
CLECT	607	731	4.19e-36	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Colec12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Colec12	APN	18	9,848,826 (GRCm39)	missense	probably damaging	1.00
IGL02477:Colec12	APN	18	9,859,858 (GRCm39)	missense	unknown
R0128:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0130:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0178:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0179:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0180:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0180:Colec12	UTSW	18	9,848,890 (GRCm39)	missense	probably damaging	0.99
R0318:Colec12	UTSW	18	9,848,446 (GRCm39)	missense	possibly damaging	0.77
R0344:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0573:Colec12	UTSW	18	9,858,650 (GRCm39)	missense	probably damaging	0.97
R1028:Colec12	UTSW	18	9,866,837 (GRCm39)	missense	unknown
R1693:Colec12	UTSW	18	9,866,765 (GRCm39)	missense	unknown
R1951:Colec12	UTSW	18	9,859,975 (GRCm39)	critical splice donor site	probably null
R2181:Colec12	UTSW	18	9,846,828 (GRCm39)	missense	probably damaging	0.99
R4258:Colec12	UTSW	18	9,720,950 (GRCm39)	missense	probably damaging	1.00
R4794:Colec12	UTSW	18	9,848,984 (GRCm39)	missense	probably damaging	0.99
R5269:Colec12	UTSW	18	9,846,825 (GRCm39)	missense	possibly damaging	0.67
R5369:Colec12	UTSW	18	9,866,750 (GRCm39)	missense	unknown
R5421:Colec12	UTSW	18	9,858,580 (GRCm39)	missense	probably damaging	1.00
R5608:Colec12	UTSW	18	9,848,267 (GRCm39)	missense	possibly damaging	0.95
R5668:Colec12	UTSW	18	9,848,963 (GRCm39)	missense	probably damaging	1.00
R5684:Colec12	UTSW	18	9,849,009 (GRCm39)	missense	probably damaging	0.99
R6547:Colec12	UTSW	18	9,840,351 (GRCm39)	missense	probably damaging	1.00
R7194:Colec12	UTSW	18	9,848,248 (GRCm39)	missense	probably benign	0.08
R7253:Colec12	UTSW	18	9,848,922 (GRCm39)	missense	probably damaging	1.00
R8492:Colec12	UTSW	18	9,876,980 (GRCm39)	splice site	probably null
R9365:Colec12	UTSW	18	9,848,146 (GRCm39)	missense	probably damaging	1.00
R9649:Colec12	UTSW	18	9,877,000 (GRCm39)	missense	unknown
Z1088:Colec12	UTSW	18	9,848,727 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GCCTCTCTGCAAACAGCTAAG -3'
(R):5'- TGAGAGCCTACATTCAGAGTCC -3'

Sequencing Primer
(F):5'- CAGCTAAGTGAAAGTGAGCAGTTTTC -3'
(R):5'- GAGAGCCTACATTCAGAGTCCTTCTC -3'

Posted On

2014-08-25